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Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
Open accessAbstract
In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort of over 1600 neuropathologically defined AD cases and controls (1019 cases and 591 controls). Testing the top genes from the AlzGene meta-analysis, we confirm the well-known association with APOE single nucleotide polymorphisms (SNPs), the CLU, PICALM and CR1 SNPs recently implicated in unusually large data sets, and previously implicated CST3 and ACE SNPs. In the cases of CLU, PICALM and CR1, as well as in APOE, the odds ratios we find are slightly larger than those previously reported in clinical samples, consistent with what we believe to be more accurate classification of disease in the clinically characterized and neuropathologically confirmed AD cases and controls.
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“The association of PICALM polymorphisms with late-onset AD has been reported by the majority of GWAS studies (94, 119, 236, 265, 298, 344, 528).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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“APOE4 increases the risk for developing AD by 2.5-4-fold in heterozygous and 12-15-fold in homozygous carriers (Corder et al., 1993; Grupe et al., 2007; Corneveaux et al., 2010), however the risk is affected by factors such as sex or population ancestry (Belloy et al., 2023).”
From APOE genotype-dependent differences in human astrocytic energy metabolism (2025) · cites this paper as Corneveaux et al., 2010
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“Some additional highly replicated risk genes include CR1 , BIN1 , and TREM2 (94, 119, 219, 300, 344, 543).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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“Several GWAS studies have identified CLU as a significant genetic risk factor for sporadic AD (94, 119, 236, 343).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [119]
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Fast model-based estimation of ancestry in unrelated individuals
Alexander, D. H., Novembre, J., & Lange, K. (2009) · Genome Research · doi:10.1101/gr.094052.109 · Cited by 9,898
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
Strittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S., & Roses, A. D. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1977 · Cited by 4,268
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
Self-citationStaging of alzheimer's disease-related neurofibrillary changes
Braak, H., & Braak, E. (1995) · Neurobiology of Aging · doi:10.1016/0197-4580(95)00021-6 · Cited by 2,357
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
Bertram, L., McQueen, M. B., Mullin, K., Blacker, D., & Tanzi, R. E. (2007) · Nature Genetics · doi:10.1038/ng1934 · Cited by 1,857
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.262.18.2551 · Cited by 1,627
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.1989.03430180093036 · Cited by 1,226
Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.237 · Cited by 783
Evans, D. A., Funkenstein, H. H., Albert, M., Scherr, P. A., Cook, N. R., Chown, M. J., Hebert, L. E., Hennekens, C. H., & Taylor, J. O. (1989) · PubMed · Cited by 599
Coon, K. D., Myers, A. J., Craig, D. W., Webster, J. A., Pearson, J. V., Lince, D. H., Zismann, V. L., Beach, T. G., Leung, D., Bryden, L., et al. (2007) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.v68n0419 · Cited by 569
Self-citationGAB2 Alleles Modify Alzheimer's Risk in APOE ɛ4 Carriers
Reiman, E. M., Webster, J. A., Myers, A. J., Hardy, J., Dunckley, T., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., et al. (2007) · Neuron · doi:10.1016/j.neuron.2007.05.022 · Cited by 487
Self-citationA survey of genetic human cortical gene expression
Myers, A. J., Gibbs, J. R., Webster, J. A., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., Leung, D., Bryden, L., Nath, P., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.16 · Cited by 479
Self-citationSlooter, A. J. C., Cruts, M., Kalmijn, S., Hofman, A., Breteler, M. M. B., Van Broeckhoven, C., & van Duijn, C. M. (1998) · Archives of Neurology · doi:10.1001/archneur.55.7.964 · Cited by 399
The National Alzheimer's Coordinating Center (NACC) Database: an Alzheimer disease database.
Beekly, D. L., Ramos, E. M., van Belle, G., Deitrich, W. D., Clark, A. D., Jacka, M. E., & Kukull, W. A. (2004) · PubMed · Cited by 371
Genetic Control of Human Brain Transcript Expression in Alzheimer Disease
Webster, J. A., Gibbs, J. R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.011 · Cited by 304
Self-citationThe Number of Trait Loci in Late-Onset Alzheimer Disease
Daw, E. W., Payami, H., Nemens, E. J., Nochlin, D., Bird, T. D., Schellenberg, G. D., & Wijsman, E. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302710 · Cited by 295
Angiotensin-Converting Enzyme Inhibitors and Cognitive Decline in Older Adults With Hypertension
Sink, K. M., Leng, X., Williamson, J. D., Kritchevsky, S. B., Yaffe, K. S., Kuller, L. H., Yaşar, S., Atkinson, H. H., Robbins, M. E. C., Psaty, B. M., et al. (2009) · Archives of Internal Medicine · doi:10.1001/archinternmed.2009.175 · Cited by 240
Cystatin C inhibits amyloid-β deposition in Alzheimer's disease mouse models
Mi, W., Pawlik, M., Sastre, M., Jung, S. S., Radvinsky, D. S., Klein, A. M., Sommer, J., Schmidt, S. D., Nixon, R. A., Mathews, P. M., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.29 · Cited by 192
Evans, D. A. (1997) · JAMA · doi:10.1001/jama.277.10.822 · Cited by 192
Non-familial Alzheimer's disease is mainly due to genetic factors
Ashford, J. W., & Mortimer, J. A. (2002) · Journal of Alzheimer s Disease · doi:10.3233/jad-2002-4307 · Cited by 151
Single-day apolipoprotein E genotyping
Crook, R., Hardy, J., & Duff, K. (1994) · Journal of Neuroscience Methods · doi:10.1016/0165-0270(94)90168-6 · Cited by 149
Self-citationGenetic Aspects of Alzheimer Disease
Williamson, J., Goldman, J. S., & Marder, K. S. (2009) · The Neurologist · doi:10.1097/nrl.0b013e318187e76b · Cited by 142
Neuropathologic intermediate phenotypes enhance association to Alzheimer susceptibility alleles
Bennett, D. A., De Jager, P. L., Leurgans, S. E., & Schneider, J. A. (2009) · Neurology · doi:10.1212/wnl.0b013e3181a2e87d · Cited by 93
Self-citationHypertension, Executive Dysfunction, and Progression to Dementia
Oveisgharan, S., & Hachinski, V. (2010) · Archives of Neurology · doi:10.1001/archneurol.2009.312 · Cited by 84
Cherbuin, N., Réglade‐Meslin, C., Kumar, R., Jacomb, P. A., Easteal, S., Christensen, H. M., Sachdev, P. S., & Anstey, K. J. (2009) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000229025 · Cited by 82
Genetic Variability in CLU and Its Association with Alzheimer's Disease
Guerreiro, R. J., Beck, J., Gibbs, J. R., Santana, I. J., Rossor, M. N., Schott, J. M., Nalls, M. A., Ribeiro, H. F., Santiago, B., Fox, N. C., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009510 · Cited by 57
Self-citationGuo, Z., Fratiglioni, L., Viitanen, M. H., Lannfelt, L., Basun, H., Fastbom, J., & Winblad, B. G. (2001) · American Journal of Epidemiology · doi:10.1093/aje/153.3.225 · Cited by 53
Wray, S., & Noble, W. J. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.2234-09.2009 · Cited by 42
Miniaturized sealed-tube allele-specific PCR
Hawkins, J. R., Khripin, Y., Valdes, A. M., & Weaver, T. A. (2002) · Human Mutation · doi:10.1002/humu.10060 · Cited by 42
Zubenko, G. S., Stiffler, J. S., Hughes, H. B., Hurtt, M. R., & Kaplan, B. B. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980207)81:1 · Cited by 29
Neurodegenerative Disorders and Cholesterol
Michikawa, M. (2004) · Current Alzheimer Research · doi:10.2174/1567205043331983 · Cited by 23
Webster, J., Reiman, E. M., Zismann, V., Joshipura, K. D., Pearson, J. V., Hu‐Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Beach, T., et al. (2010) · PubMed Central · Cited by 7
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Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997
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Ressler, K. J., Mercer, K. B., Bradley, B., Jovanovic, T., Mahan, A., Kerley, K., Norrholm, S. D., Kilaru, V., Smith, A. K., Myers, A. J., et al. (2011) · Nature · doi:10.1038/nature09856 · Cited by 800
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Genin, E., Hannequin, D., Wallon, D., Sleegers, K., Hiltunen, M., Combarros, O., Bullido, M. J., Engelborghs, S., De Deyn, P., Berr, C., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.52 · Cited by 714
Metadata
- Authors
- Corneveaux, J. J., Myers, A. J., Allen, A. N., Pruzin, J. J., Ramirez, M., Engel, A., Nalls, M. A., Chen, K., Lee, W., Chewning, K., Villa, S. E., Meechoovet, H. B., Gerber, J. D., Frost, D., Benson, H. L., O'Reilly, S., Chibnik, L. B., Shulman, J. M., Singleton, A. B., Craig, D. W., Van Keuren-Jensen, K. R., Dunckley, T., Bennett, D. A., De Jager, P. L., Heward, C., Hardy, J., Reiman, E. M., & Huentelman, M. J.
- Affiliations
- Translational Genomics Research Institute (US)
- University of Miami (US)
- Banner Alzheimer’s Institute (US)
- Brigham and Women's Hospital (US)
- National Institutes of Health (US)
- Rush University Medical Center (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Corresponding author
- Huentelman, Matthew J.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-06-09
- Volume
- 19
- Issue
- 16
- Pages
- 3295-3301
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2908469
- OpenAlex
- W2147719183
- Cited by
- 237
- References
- 38
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 11 · 2023: 4 · 2022: 5 · 2021: 4 · 2020: 13 · 2019: 12 · 2018: 23 · 2017: 15 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 21 · 2012: 34
- FWCI
- 19.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- University of Miami
- Rush University
- Alzheimer's Society
- Alzheimer's Research Trust
- National Institute for Health and Care Research (P30AG10161)
- Newcastle University (G0400074)
- Stichting MS Research
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- North Bristol NHS Trust
- Universitat de Barcelona
- Hersenstichting
- National Institutes of Health (1k01ag024079-01a2, AG19610)
- Medical Research Council (G0400074)
- NIHR Newcastle Biomedical Research Centre
- National Institute on Aging (P30-AG 10161, P30-AG-19610, P50AG005144, AG-034504, P30AG028377, U01AG016976, K01-AG-024079, R01AG034504, AG-19610, P50AG016570, K08AG034290, P50AG005128, R01AG015819, P30AG010161, AG031581, R01AG031581, Z01AG000950, P50AG005681, P50AG008671, P30AG019610, P50AG005146, P50AG005136, P50AG005134)
- National Institute of Mental Health (P50MH060451)
- National Institute of Neurological Disorders and Stroke (R01NS059873, NS059873, P30 AG19610, P50NS039764)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic association, complement receptor 1, clusterin, PICALM, apolipoprotein E, CST3, ACE, single nucleotide polymorphisms, genetic risk variants, imputation
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Gene Frequency, Genotype, Humans, Cohort Studies, Odds Ratio, Receptors, Complement 3b, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Monomeric Clathrin Assembly Proteins, Clusterin, Genome-Wide Association Study
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